Autosomal Dominantly Inherited GREB1L Variants in Individuals with Profound Sensorineural Hearing Impairment

Congenital hearing impairment is a sensory disorder that is genetically highly heterogeneous. By performing exome sequencing in two families with congenital nonsyndromic profound sensorineural hearing loss (SNHL), we identified autosomal dominantly inherited missense variants [p.(Asn283Ser); p.(Thr1...

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Detalles Bibliográficos
Autores principales: Schrauwen, Isabelle, Liaqat, Khurram, Schatteman, Isabelle, Bharadwaj, Thashi, Nasir, Abdul, Acharya, Anushree, Ahmad, Wasim, Van Camp, Guy, Leal, Suzanne M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7349314/
https://www.ncbi.nlm.nih.gov/pubmed/32585897
http://dx.doi.org/10.3390/genes11060687

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7349314/
https://www.ncbi.nlm.nih.gov/pubmed/32585897
http://dx.doi.org/10.3390/genes11060687

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